R56Q (p.Arg56Gln) variant of ATP6V1B1 (P15313)
R56Q (p.Arg56Gln) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs782628302
- ClinGen CA1700919
- cosmic curated COSV10608
- ClinVar RCV002011230
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available